Incidental Mutation 'R6851:Slc13a4'
ID |
534963 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc13a4
|
Ensembl Gene |
ENSMUSG00000029843 |
Gene Name |
solute carrier family 13 (sodium/sulfate symporters), member 4 |
Synonyms |
SUT-1, SUT1, 9630060C05Rik |
MMRRC Submission |
044955-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.887)
|
Stock # |
R6851 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
35244888-35285061 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35278668 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 74
(S74P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031868]
|
AlphaFold |
Q8BZ82 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031868
AA Change: S74P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031868 Gene: ENSMUSG00000029843 AA Change: S74P
Domain | Start | End | E-Value | Type |
Pfam:Na_sulph_symp
|
5 |
609 |
3.2e-105 |
PFAM |
Pfam:CitMHS
|
45 |
166 |
1.1e-15 |
PFAM |
Pfam:CitMHS
|
251 |
531 |
8.9e-18 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (41/41) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display lethality before birth, impaired placental sulfate transport, failure of bone ossification, impaired vascular development, hemorrhaging, and cleft palate. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
T |
17: 46,623,345 (GRCm39) |
C856S |
probably benign |
Het |
Arrdc2 |
T |
C |
8: 71,291,369 (GRCm39) |
E153G |
probably damaging |
Het |
Cacna1d |
T |
C |
14: 29,764,739 (GRCm39) |
D2033G |
probably damaging |
Het |
Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
Cracr2a |
A |
T |
6: 127,585,679 (GRCm39) |
D159V |
probably damaging |
Het |
Defa35 |
T |
C |
8: 21,555,146 (GRCm39) |
I22T |
possibly damaging |
Het |
Dgke |
T |
C |
11: 88,943,309 (GRCm39) |
T227A |
probably benign |
Het |
Efcab3 |
G |
A |
11: 104,896,521 (GRCm39) |
R4290K |
probably benign |
Het |
Firrm |
G |
A |
1: 163,792,336 (GRCm39) |
R554C |
probably damaging |
Het |
Galnt10 |
G |
A |
11: 57,656,458 (GRCm39) |
R214Q |
probably damaging |
Het |
Gpr180 |
T |
C |
14: 118,391,037 (GRCm39) |
Y189H |
probably damaging |
Het |
Hadh |
A |
G |
3: 131,065,620 (GRCm39) |
S13P |
possibly damaging |
Het |
Hcn2 |
T |
A |
10: 79,564,947 (GRCm39) |
|
probably null |
Het |
Irgm2 |
T |
C |
11: 58,110,641 (GRCm39) |
S123P |
possibly damaging |
Het |
Kcnv1 |
T |
A |
15: 44,972,594 (GRCm39) |
I430F |
probably damaging |
Het |
Kif13b |
G |
A |
14: 65,010,514 (GRCm39) |
C1271Y |
probably damaging |
Het |
Klhdc3 |
A |
T |
17: 46,989,218 (GRCm39) |
I48N |
possibly damaging |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Mprip |
T |
A |
11: 59,649,841 (GRCm39) |
W1182R |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,497,630 (GRCm39) |
|
probably null |
Het |
Or12e1 |
T |
A |
2: 87,022,813 (GRCm39) |
S261T |
probably benign |
Het |
Or1j11 |
T |
A |
2: 36,311,832 (GRCm39) |
C141S |
probably damaging |
Het |
Or8b51 |
A |
G |
9: 38,569,481 (GRCm39) |
V69A |
probably benign |
Het |
Or8h9 |
T |
C |
2: 86,789,611 (GRCm39) |
T64A |
possibly damaging |
Het |
Or9m1b |
T |
A |
2: 87,836,300 (GRCm39) |
H265L |
probably damaging |
Het |
Osbpl8 |
T |
A |
10: 111,106,479 (GRCm39) |
Y295* |
probably null |
Het |
Pex5 |
A |
G |
6: 124,380,113 (GRCm39) |
S275P |
possibly damaging |
Het |
Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
Sele |
G |
T |
1: 163,881,521 (GRCm39) |
G543C |
probably damaging |
Het |
Serpina3k |
A |
C |
12: 104,311,625 (GRCm39) |
Y401S |
probably benign |
Het |
Spata31d1a |
A |
G |
13: 59,851,725 (GRCm39) |
L114P |
unknown |
Het |
Syne1 |
G |
T |
10: 5,212,703 (GRCm39) |
C3295* |
probably null |
Het |
Tepsin |
G |
T |
11: 119,987,787 (GRCm39) |
H44N |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,398,919 (GRCm39) |
V170E |
probably damaging |
Het |
Trav3-1 |
T |
C |
14: 52,818,428 (GRCm39) |
V34A |
probably damaging |
Het |
Tsbp1 |
A |
T |
17: 34,679,146 (GRCm39) |
Y303F |
possibly damaging |
Het |
Ush2a |
T |
C |
1: 188,265,402 (GRCm39) |
V1642A |
probably benign |
Het |
Vmn1r122 |
A |
G |
7: 20,867,845 (GRCm39) |
I70T |
probably benign |
Het |
Vmn2r96 |
A |
G |
17: 18,802,800 (GRCm39) |
M237V |
possibly damaging |
Het |
Wdr75 |
A |
G |
1: 45,862,587 (GRCm39) |
E802G |
probably benign |
Het |
Zan |
G |
A |
5: 137,394,453 (GRCm39) |
T4462I |
unknown |
Het |
|
Other mutations in Slc13a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00230:Slc13a4
|
APN |
6 |
35,266,759 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00975:Slc13a4
|
APN |
6 |
35,251,910 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01069:Slc13a4
|
APN |
6 |
35,245,817 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01319:Slc13a4
|
APN |
6 |
35,284,288 (GRCm39) |
splice site |
probably null |
|
IGL01560:Slc13a4
|
APN |
6 |
35,248,538 (GRCm39) |
splice site |
probably benign |
|
IGL02125:Slc13a4
|
APN |
6 |
35,255,223 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02415:Slc13a4
|
APN |
6 |
35,260,172 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02888:Slc13a4
|
APN |
6 |
35,245,775 (GRCm39) |
missense |
probably benign |
0.10 |
R0047:Slc13a4
|
UTSW |
6 |
35,264,297 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0047:Slc13a4
|
UTSW |
6 |
35,264,297 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0532:Slc13a4
|
UTSW |
6 |
35,264,339 (GRCm39) |
splice site |
probably null |
|
R0747:Slc13a4
|
UTSW |
6 |
35,255,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R1391:Slc13a4
|
UTSW |
6 |
35,248,597 (GRCm39) |
missense |
probably damaging |
0.96 |
R2106:Slc13a4
|
UTSW |
6 |
35,264,799 (GRCm39) |
missense |
probably damaging |
0.99 |
R2253:Slc13a4
|
UTSW |
6 |
35,257,418 (GRCm39) |
missense |
probably benign |
0.00 |
R3195:Slc13a4
|
UTSW |
6 |
35,245,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R3689:Slc13a4
|
UTSW |
6 |
35,245,845 (GRCm39) |
missense |
possibly damaging |
0.87 |
R3698:Slc13a4
|
UTSW |
6 |
35,251,892 (GRCm39) |
missense |
probably benign |
0.06 |
R3785:Slc13a4
|
UTSW |
6 |
35,264,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R3856:Slc13a4
|
UTSW |
6 |
35,248,539 (GRCm39) |
splice site |
probably null |
|
R5400:Slc13a4
|
UTSW |
6 |
35,278,777 (GRCm39) |
nonsense |
probably null |
|
R6142:Slc13a4
|
UTSW |
6 |
35,278,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R6645:Slc13a4
|
UTSW |
6 |
35,245,774 (GRCm39) |
missense |
probably benign |
0.19 |
R7200:Slc13a4
|
UTSW |
6 |
35,264,285 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7513:Slc13a4
|
UTSW |
6 |
35,260,272 (GRCm39) |
splice site |
probably null |
|
R7590:Slc13a4
|
UTSW |
6 |
35,256,398 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7673:Slc13a4
|
UTSW |
6 |
35,253,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R7706:Slc13a4
|
UTSW |
6 |
35,247,290 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7971:Slc13a4
|
UTSW |
6 |
35,248,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R8056:Slc13a4
|
UTSW |
6 |
35,245,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R8428:Slc13a4
|
UTSW |
6 |
35,245,814 (GRCm39) |
missense |
probably benign |
0.21 |
R8486:Slc13a4
|
UTSW |
6 |
35,247,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R8767:Slc13a4
|
UTSW |
6 |
35,245,783 (GRCm39) |
missense |
probably benign |
0.21 |
R8795:Slc13a4
|
UTSW |
6 |
35,260,230 (GRCm39) |
missense |
probably benign |
0.01 |
R9145:Slc13a4
|
UTSW |
6 |
35,247,290 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9431:Slc13a4
|
UTSW |
6 |
35,278,742 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Slc13a4
|
UTSW |
6 |
35,255,227 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Slc13a4
|
UTSW |
6 |
35,266,785 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Slc13a4
|
UTSW |
6 |
35,266,784 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGACCAACTGCTGTTTCCTATAG -3'
(R):5'- GGTAACGAGTATCCCCATGAC -3'
Sequencing Primer
(F):5'- CTAGGGCTATATAAGGAGACCCTGTC -3'
(R):5'- GGTAACGAGTATCCCCATGACTAAGC -3'
|
Posted On |
2018-09-12 |